Mutagenetix > Incidental Mutations

Incidental Mutation 'R1562:Alox12'

170696

Institutional Source

Beutler Lab

Gene Symbol

Alox12

Ensembl Gene

ENSMUSG00000000320

Gene Name

arachidonate 12-lipoxygenase

Synonyms

P-12LO, 9930022G08Rik, Alox12p

MMRRC Submission

039601-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70241457-70255353 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70250165 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 348 (R348L)

Ref Sequence

ENSEMBL: ENSMUSP00000000329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000329] [ENSMUST00000108574]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000329
AA Change: R348L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000329
Gene: ENSMUSG00000000320
AA Change: R348L

Domain	Start	End	E-Value	Type
LH2	2	111	9.78e-40	SMART
Pfam:Lipoxygenase	172	650	5.1e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108574
AA Change: R348L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104214
Gene: ENSMUSG00000000320
AA Change: R348L

Domain	Start	End	E-Value	Type
LH2	2	111	9.78e-40	SMART
Pfam:Lipoxygenase	121	211	8.1e-9	PFAM
Pfam:Lipoxygenase	210	390	3e-61	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased basal transepidermal water loss and hypersensitivity to adenosine 5'-diphosphate-induced platelet aggregation and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	T	11: 76,003,198	I134F	probably damaging	Het
Abca2	A	G	2: 25,446,319	I2201V	probably benign	Het
Adam22	T	C	5: 8,095,007	N817S	probably damaging	Het
Asb17	A	T	3: 153,853,506	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733	S182P	possibly damaging	Het
Cenpe	T	C	3: 135,238,394	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,300,235	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917	I126V	probably benign	Het
Cubn	T	C	2: 13,427,967	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,373,978	L147Q	probably damaging	Het
D430042O09Rik	C	A	7: 125,842,848	S643Y	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fat2	T	C	11: 55,309,974	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,016	D15G	probably damaging	Het
Flt3	T	C	5: 147,344,513	E803G	probably damaging	Het
Folr1	T	G	7: 101,858,594	D213A	probably damaging	Het
Fus	T	C	7: 127,979,922	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,765,514	R111*	probably null	Het
Gm17324	T	C	9: 78,448,682		probably benign	Het
Hormad2	A	T	11: 4,408,848		probably null	Het
Ifi27l2b	T	A	12: 103,456,521		probably null	Het
Isg20	G	T	7: 78,920,143	C176F	probably benign	Het
Krt15	C	A	11: 100,133,181	V346L	probably benign	Het
Med13l	A	G	5: 118,738,519	K920R	probably damaging	Het
Mlh3	A	T	12: 85,266,920	F831I	probably benign	Het
Mtmr9	A	G	14: 63,534,337	S267P	probably benign	Het
Mybpc1	C	T	10: 88,553,331	A406T	probably damaging	Het
Myh1	T	C	11: 67,211,370	M829T	probably benign	Het
Myo10	A	G	15: 25,780,411	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,239,552	V153D	probably damaging	Het
Olfr1195	T	A	2: 88,683,079	I218F	probably benign	Het
Olfr348	A	G	2: 36,786,684	D53G	probably damaging	Het
Olfr694	C	T	7: 106,688,980	M250I	probably benign	Het
Olfr898	C	A	9: 38,349,362	S87*	probably null	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pcnt	G	A	10: 76,367,330	T2646M	probably benign	Het
Phf10	A	T	17: 14,946,250	C453S	probably damaging	Het
Plcb4	T	A	2: 135,970,447		probably null	Het
Plekhh1	A	G	12: 79,076,708	H1185R	probably benign	Het
Prmt3	G	T	7: 49,826,854	V404L	probably benign	Het
Ptprb	T	A	10: 116,339,467	D1122E	probably benign	Het
Rars	A	G	11: 35,821,094		probably null	Het
Rasa2	G	T	9: 96,545,750	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,596,535	T40A	probably damaging	Het
Rem2	T	C	14: 54,476,318	V16A	probably benign	Het
Rlf	A	T	4: 121,150,391	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,694,217	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,476,623	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,385,893	S278P	probably benign	Het
Strn3	T	C	12: 51,633,618	T400A	probably benign	Het
Sycp2	A	T	2: 178,382,385	I402N	probably damaging	Het
Synj1	C	T	16: 90,987,402	V283I	probably benign	Het
Tas2r108	A	G	6: 40,494,066		probably null	Het
Ttpal	A	G	2: 163,615,403	N265S	probably benign	Het
Unc80	G	A	1: 66,637,957	G2015D	probably damaging	Het
Upf1	C	T	8: 70,343,367	W138*	probably null	Het
Vmn1r25	T	G	6: 57,978,801	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,586,836	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,389,444	T640N	probably damaging	Het
Wdr75	T	A	1: 45,803,870		probably null	Het
Zdbf2	T	G	1: 63,303,588	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,204,392	Q99R	probably benign	Het
Zfp964	C	T	8: 69,663,004	P85S	probably benign	Het

Other mutations in Alox12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Alox12	APN	11	70254549	missense	probably benign	0.12
IGL01629:Alox12	APN	11	70242834	missense	probably damaging	1.00
IGL02657:Alox12	APN	11	70247278	missense	probably benign
IGL02966:Alox12	APN	11	70250085	missense	probably damaging	1.00
R0243:Alox12	UTSW	11	70242716	missense	possibly damaging	0.82
R0357:Alox12	UTSW	11	70242536	missense	probably damaging	1.00
R0394:Alox12	UTSW	11	70245935	missense	probably damaging	1.00
R0422:Alox12	UTSW	11	70254558	missense	probably damaging	1.00
R0564:Alox12	UTSW	11	70252836	missense	probably damaging	0.99
R0751:Alox12	UTSW	11	70246950	missense	probably benign	0.00
R1539:Alox12	UTSW	11	70253243	splice site	probably null
R2165:Alox12	UTSW	11	70242572	splice site	probably null
R2295:Alox12	UTSW	11	70242465	missense	probably benign	0.45
R4073:Alox12	UTSW	11	70247310	missense	probably damaging	1.00
R4558:Alox12	UTSW	11	70253063	missense	probably benign	0.03
R5081:Alox12	UTSW	11	70255314	splice site	probably null
R5198:Alox12	UTSW	11	70254417	missense	probably damaging	1.00
R5507:Alox12	UTSW	11	70254412	missense	possibly damaging	0.87
R5793:Alox12	UTSW	11	70243053	missense	probably benign	0.00
R5832:Alox12	UTSW	11	70253280	missense	probably damaging	0.98
R5975:Alox12	UTSW	11	70242783	missense	possibly damaging	0.89
R5984:Alox12	UTSW	11	70247055	missense	possibly damaging	0.83
R5988:Alox12	UTSW	11	70251587	missense	probably benign	0.05
R6030:Alox12	UTSW	11	70254591	missense	possibly damaging	0.72
R6030:Alox12	UTSW	11	70254591	missense	possibly damaging	0.72
R6248:Alox12	UTSW	11	70253110	missense	probably damaging	1.00
R6505:Alox12	UTSW	11	70250204	missense	probably damaging	1.00
R7320:Alox12	UTSW	11	70254472	missense	probably benign	0.02
R7595:Alox12	UTSW	11	70242404	missense	probably damaging	1.00
R7972:Alox12	UTSW	11	70242687	missense	probably benign	0.15
X0025:Alox12	UTSW	11	70255224	missense	probably damaging	0.96
Z1177:Alox12	UTSW	11	70251479	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGTAAGCCCATTGTGAGACTGCC -3'
(R):5'- CATTTCCCCAGGAACTGTGACTGC -3'

Sequencing Primer
(F):5'- ggggagtggtagagacagg -3'
(R):5'- ACGGAGTGGGAGTTCAGTAACT -3'

Posted On

2014-04-13